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cardiomyopathy pediatric

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https://www.readbyqxmd.com/read/28802483/left-ventricular-systolic-myocardial-deformation-a%C3%A2-comparison-of-two-and-three-dimensional-echocardiography-in-children
#1
Sowmya Balasubramanian, Rajesh Punn, Shea N Smith, Helene Houle, Theresa A Tacy
BACKGROUND: The clinical applicability and reliability of three-dimensional (3D) speckle-tracking echocardiography has not been well studied in pediatric patients. The aim of this study was to compare two-dimensional (2D) echocardiography and 3DE real-time full-volume-derived strain and rotation indices in healthy children and patients with dilated cardiomyopathy (DCM). METHODS: Children with either normal function or DCM were prospectively recruited in an outpatient setting, and deformation indices, including circumferential, radial, and longitudinal strain and torsion, were measured by 2D and 3D echocardiography...
August 9, 2017: Journal of the American Society of Echocardiography
https://www.readbyqxmd.com/read/28764973/disturbed-desmoglein-2-in-the-intercalated-disc-of-pediatric-patients-with-dilated-cardiomyopathy
#2
Elise L Kessler, Peter Gj Nikkels, Toon Ab van Veen
Dilated cardiomyopathy (DCM) leads to disturbed contraction and force transduction, and is associated with substantial mortality in all age groups. Involvement of a disrupted composition of the intercalated disc (ID) has been reported. However, in children, little is established about such subcellular changes during disease, because of the pathological mix-up with the ongoing cardiac maturation. This leaves maladaptive remodeling often undetected. We aimed at illustrating subcellular alterations in children diagnosed with DCM compared to age-matched controls, focusing on ID proteins known to be crucially stable under healthy conditions and destabilized during cardiac injury in adults...
July 29, 2017: Human Pathology
https://www.readbyqxmd.com/read/28762167/elevated-myocardial-extracellular-volume-fraction-in-duchenne-muscular-dystrophy
#3
James J Starc, Ryan A Moore, Mantosh S Rattan, Chet R Villa, Zhiqian Gao, Wojciech Mazur, John L Jefferies, Michael D Taylor
Duchenne muscular dystrophy (DMD) is a genetic, X-linked recessive disease with an associated cardiomyopathy characterized by myocardial fibrosis leading to heart failure, arrhythmias, and death. Earlier detection and treatment of cardiac involvement in DMD hold potential to improve outcomes. Cardiovascular magnetic resonance (CMR) extracellular volume (ECV) quantification using T1 mapping is a histologically validated, non-invasive marker of diffuse fibrosis. This study aims to determine the ECV in a pediatric DMD population, and correlate it with metrics of left ventricular function...
July 31, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28755194/hereditary-tyrosinemia-type-1-in-turkey
#4
Ayse Cigdem Aktuglu-Zeybek, Ertugrul Kiykim, M Serif Cansever
Hereditary tyrosinemia type 1 (HT1, OMIM 276700) is a rare autosomal recessively inherited inborn error of metabolism in the tyrosine catabolic pathway due to deficiency of the enzyme fumarylacetoacetate hydrolase. The clinical features of HT1 are widely heterogenous even within the same family members. Clinical features includes acute or chronic liver disease with increased risk of hepatocellular carcinoma, hypophosphatemic rickets due to renal tubular dysfunction, glomerulosclerosis, failure to thrive, neurological porphyria-like crisis, hypertrophic cardiomyopathy and hypoglycemia due to hyperinsulinism...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28737196/-results-of-a-national-program-of-pediatric-heart-transplantation-strengths-and-weakness
#5
Pedro Becker, Santiago Besa, Sergio Riveros, Rodrigo González, Alfonso Navia, Paulina Dellepiane, Daniel Springmuller, Gonzalo Urcelay
Pediatric heart transplantation is an effective therapy to treat advanced heart failure in children. OBJECTIVES: To analyze the immediate and mid-term results of pediatric patients listed for heart transplantation. PATIENTS AND METHODS: Registration of patients admitted to our transplant protocol between October 2001 and July 2016 were reviewed, analyzing demographic data, diagnosis, status at the time of listing, waiting time until transplantation, donor data, use of ventricular assist device, hemodynamic data, complications and global mortality...
June 2017: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/28734448/alternative-strategy-for-biventricular-assist-device-in-an-infant-with-hypertrophic-cardiomyopathy
#6
John C Dykes, Olaf Reinhartz, Christopher S Almond, Vamsi Yarlagadda, Jenna Murray, David N Rosenthal, Katsuhide Maeda
We report an infant with hypertrophic cardiomyopathy who underwent biventricular assist device placement with two 15-mL Berlin Heart EXCOR pediatric ventricular assist devices using an alternative atrial cannulation strategy. The systemic circulation was supported by left atrium (LA) to aorta cannulation. The LA was accessed through the right atrium by extending a 6-mm EXCOR cannula with a Gore-Tex graft connected to an atrial septal defect. The pulmonary circulation was supported with cannulation of the right atrium to pulmonary artery...
August 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28724804/pediatric-dilated-cardiomyopathy-hearts-display-a-unique-gene-expression-profile
#7
Philip D Tatman, Kathleen C Woulfe, Anis Karimpour-Fard, Danielle A Jeffrey, James Jaggers, Joseph C Cleveland, Karin Nunley, Matthew Rg Taylor, Shelley D Miyamoto, Brian L Stauffer, Carmen C Sucharov
Our previous work showed myocellular differences in pediatric and adult dilated cardiomyopathy (DCM). However, a thorough characterization of the molecular pathways involved in pediatric DCM does not exist, limiting the development of age-specific therapies. To characterize this patient population, we investigated the transcriptome profile of pediatric patients. RNA-Seq from 7 DCM and 7 nonfailing (NF) explanted age-matched pediatric left ventricles (LV) was performed. Changes in gene expression were confirmed by real-time PCR (RT-PCR) in 36 DCM and 21 NF pediatric hearts and in 20 DCM and 10 NF adult hearts...
July 20, 2017: JCI Insight
https://www.readbyqxmd.com/read/28724792/pediatric-and-adult-dilated-cardiomyopathy-represent-distinct-pathological-entities
#8
Meghna D Patel, Jayaram Mohan, Caralin Schneider, Geetika Bajpai, Enkhsaikhan Purevjav, Charles E Canter, Jeffrey Towbin, Andrea Bredemeyer, Kory J Lavine
Pediatric dilated cardiomyopathy (DCM) is the most common indication for heart transplantation in children. Despite similar genetic etiologies, medications routinely used in adult heart failure patients do not improve outcomes in the pediatric population. The mechanistic basis for these observations is unknown. We hypothesized that pediatric and adult DCM comprise distinct pathological entities, in that children do not undergo adverse remodeling, the target of adult heart failure therapies. To test this hypothesis, we examined LV specimens obtained from pediatric and adult donor controls and DCM patients...
July 20, 2017: JCI Insight
https://www.readbyqxmd.com/read/28719387/pediatric-mitochondrial-diseases-and-the-heart
#9
Gregory M Enns
PURPOSE OF REVIEW: Mitochondrial disorders are an increasingly recognized cause of heart dysfunction, with the primary manifestations being cardiomyopathy and conduction defects. This review focuses on the complex genetics of mitochondrial disease and recently discovered conditions that affect mitochondrial function. RECENT FINDINGS: Next-generation sequencing techniques, especially whole-exome sequencing, have led to the discovery of a number of conditions that cause mitochondrial dysfunction and subsequent cardiac abnormalities...
July 17, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28699125/uptake-of-predictive-genetic-testing-and-cardiac-evaluation-for-children-at-risk-for-an-inherited-arrhythmia-or-cardiomyopathy
#10
Susan Christian, Joseph Atallah, Robin Clegg, Michael Giuffre, Cathleen Huculak, Tara Dzwiniel, Jillian Parboosingh, Sherryl Taylor, Martin Somerville
Predictive genetic testing in minors should be considered when clinical intervention is available. Children who carry a pathogenic variant for an inherited arrhythmia or cardiomyopathy require regular cardiac screening and may be prescribed medication and/or be told to modify their physical activity. Medical genetics and pediatric cardiology charts were reviewed to identify factors associated with uptake of genetic testing and cardiac evaluation for children at risk for long QT syndrome, hypertrophic cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy...
July 11, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28694399/familial-hypertrophic-cardiomyopathy-a-case-with-a-new-mutation-in-the-mybpc3-gene
#11
Olgu Hallıoğlu Kılınç, Dilek Giray, Atıl Bişgin, Sevcan Tuğ Bozdoğan, Derya Karpuz
Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease with variable clinical features that is inherited as autosomal dominant with variable penetrance. Recent developments in genetics of hereditary cardiomyopathy have not only enlightened many points about pathogenesis, but have also provided great benefit to diagnostic approaches of clinicians. Heterozygous mutation of c3691-3692insTTCA in MYBPC3 gene was identified in a pediatric patient with diagnosis of hypertrophic cardiomyopathy at clinic...
July 2017: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
https://www.readbyqxmd.com/read/28669108/novel-genetic-variants-in-bag3-and-tnnt2-in-a-swedish-family-with-a-history-of-dilated-cardiomyopathy-and-sudden-cardiac-death
#12
Eva Fernlund, A Wålinder Österberg, E Kuchinskaya, M Gustafsson, K Jansson, C Gunnarsson
Familial dilated cardiomyopathy is a rare cause of dilated cardiomyopathy (DCM), especially in childhood. Our aim was to describe the clinical course and the genetic variants in a family where the proband was a four-month-old infant presenting with respiratory problems due to DCM. In the family, there was a strong family history of DCM and sudden cardiac death in four generations. DNA was analyzed initially from the deceased girl using next-generation sequencing including 50 genes involved in cardiomyopathy...
August 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28660071/comparison-of-two-dimensional-strain-analysis-using-vendor-independent-and-vendor-specific-software-in-adult-and-pediatric-patients
#13
Shafkat Anwar, Kazuaki Negishi, Allen Borowszki, Patrick Gladding, Zoran B Popović, Francine Erenberg, James D Thomas
INTRODUCTION: Two-dimensional strain analysis is a powerful analysis modality, however, clinical utilization has been limited by variability between different analysis systems and operators. We compared strain in adults and children using vendor-specific and vendor-independent software to evaluate variability. METHODS: One hundred and ten subjects (50/110 pediatric, 80/110 normal left ventricular function) had echocardiograms with a General Electric ultrasound scanner between September 2010 and January 2012...
January 2017: JRSM Cardiovascular Disease
https://www.readbyqxmd.com/read/28653469/development-of-quality-metrics-for-ambulatory-pediatric-cardiology-chest-pain
#14
Jimmy C Lu, Manish Bansal, Sarina K Behera, Jeffrey R Boris, Brian Cardis, John S Hokanson, Bahram Kakavand, Roy Jedeikin
OBJECTIVE: As part of the American College of Cardiology Adult Congenital and Pediatric Cardiology Section effort to develop quality metrics (QMs) for ambulatory pediatric practice, the chest pain subcommittee aimed to develop QMs for evaluation of chest pain. DESIGN: A group of 8 pediatric cardiologists formulated candidate QMs in the areas of history, physical examination, and testing. Consensus candidate QMs were submitted to an expert panel for scoring by the RAND-UCLA modified Delphi process...
June 27, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28619384/risk-stratification-to-determine-the-impact-of-induction-therapy-on-survival-rejection-and-adverse-events-after-pediatric-heart-transplant-a-multi-institutional-study
#15
Chesney Castleberry, Elizabeth Pruitt, Rebecca Ameduri, Kenneth Schowengerdt, Erik Edens, Nancy Hagin, James K Kirklin, David Naftel, Simon Urschel
BACKGROUND: Induction therapy is increasingly being used in pediatric heart transplantation. General versus risk-adapted use remains controversial. We aimed to determine the impact of induction therapy on outcomes after stratifying patients by diagnosis and risk. METHODS: The Pediatric Heart Transplant Study (PHTS) database was used to identify patients (age ≤18 years) who underwent transplantation between January 1, 2001 and December 31, 2014. Patients were excluded if they survived <48 hours or received multiple induction agents...
May 11, 2017: Journal of Heart and Lung Transplantation
https://www.readbyqxmd.com/read/28568969/clinical-significance-of-anti-hla-antibodies-associated-with-ventricular-assist-device-use-in-pediatric-patients-a-united-network-for-organ-sharing-database-analysis
#16
H Sonali Magdo, Kurt R Schumacher, Sunkyung Yu, Robert J Gajarski, Joshua M Friedland-Little
While VAD use in pediatric patients has previously been associated with anti-HLA antibody production, the clinical significance of these antibodies is unclear. We investigated the clinical impact of anti-HLA antibodies associated with VAD use in a large cohort of pediatric HTx recipients. From 2004 to 2011, pediatric cardiomyopathy patients post-HTx (N=1288) with pre-HTx PRA levels were identified from the United Network for Organ Sharing database. PRA levels were compared between VAD patients and those with no history of MCS...
August 2017: Pediatric Transplantation
https://www.readbyqxmd.com/read/28565750/myocardial-fibrosis-in-congenital-and-pediatric-heart-disease
#17
Jing Tian, Xinjiang An, Ling Niu
Cardiac fibrosis is a common phenomenon in different types of heart diseases, such as ischemic heart disease, inherited cardiomyopathy mutations, diabetes, and ageing and is associated with morbidity and mortality. Increased accumulation of extracellular matrix (ECM) that impacts cardiac function, is the underlying cause of fibrotic heart disease. There are four different types of cardiac fibrosis, including, reactive interstitial fibrosis, replacement fibrosis, infiltrative interstitial fibrosis and endomyocardial fibrosis...
May 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28550929/arrhythmia-and-clinical-cardiac-findings-in-children-with-anderson-fabry-disease
#18
Hunter C Wilson, Robert J Hopkin, Peace C Madueme, Richard J Czosek, Laurie A Bailey, Michael D Taylor, John L Jefferies
Anderson-Fabry Disease (AFD) is a lysosomal storage disorder that results in progressive cardiovascular hypertrophy, scarring, and arrhythmia burden; yet, the early cardiac phenotype of AFD is still poorly defined. To further characterize early cardiac features in AFD, we evaluated electrocardiographic and clinical findings contained in a local cohort of pediatric AFD patients and arrhythmia data in children enrolled in the Fabry Registry. Twenty-six local patients aged <18 years were identified (average age 9...
July 15, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28472305/recessive-taf1a-mutations-reveal-ribosomopathy-in-siblings-with-end-stage-pediatric-dilated-cardiomyopathy
#19
Pamela A Long, Jeanne L Theis, Yu-Huan Shih, Joseph J Maleszewski, Patrice C Abell Aleff, Jared M Evans, Xiaolei Xu, Timothy M Olson
Non-ischemic dilated cardiomyopathy (DCM) has been recognized as a heritable disorder for over 25 years, yet clinical genetic testing is non-diagnostic in > 50% of patients, underscoring the ongoing need for DCM gene discovery. Here, whole exome sequencing uncovered a novel molecular basis for idiopathic end-stage heart failure in two sisters who underwent cardiac transplantation at three years of age. Compound heterozygous recessive mutations in TAF1A, encoding an RNA polymerase I complex protein, were associated with marked fibrosis of explanted hearts and gene-specific nucleolar segregation defects in cardiomyocytes, indicative of impaired ribosomal RNA synthesis...
May 2, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28453909/cardiotoxicity-and-cardiomyopathy-in-children-and-young-adult-survivors-of-hematopoietic-stem-cell-transplant
#20
REVIEW
Seth J Rotz, Thomas D Ryan, Joel Hlavaty, Stephen A George, Javier El-Bietar, Christopher E Dandoy
Cardiomyopathy is common in long-term survivors of pediatric hematopoietic stem cell transplant (HSCT). Events occurring before and after HSCT when combined with specific insults during HSCT likely contribute to long-term risk. Strategies for detecting subclinical cardiomyopathy prior to patients developing overt heart failure are under investigation. Changes in HSCT preparative regimens and cardioprotective medications administered during chemotherapy may alter the risk for cardiomyopathy. Interventions in long-term survivors such as lifestyle modification and cardioactive medications are of increasing importance...
April 28, 2017: Pediatric Blood & Cancer
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